[mangi]

Hello MG NeuroTalk Group.

Well...my neurological mystery journey may have started in 2007 but erupted in November 2008. I haven't had one symptom that has been consistent with the exception of diffuse muscle twitching (i.e., fasciculations). I've had buzzing in my legs, tingling all over at different times, muscles aches in legs/back/neck/feet, ripping headaches, extreme tightness in my chest, and most recently some swallowing issues and mild ptosis (drooping) on my left eye. Occasionally I'll experience weakness in my arms, like when I'm in the garden using the hedge cutters my arms will feel tired but resume temporary strength after resting them. My most recent issue is swallowing problems that create a sensation that food is going up my nose when I swallow, but because it waxes and wanes, the last time my ENT scoped my nose to look at my swallowing function (last week), he didn't see anything abnormal. Also, I've been dealing with neck and shoulder pain (soreness), and I wake up in the morning with achy toes (yes, I know, it sounds strange).

Over the last two years I've had three independent EMGs, MRIs (C-spine, L-spine, chest), x-rays (chest), modified and regular barium swallow tests, two nasal scopes, lung function test, endoscopy, and countless blood tests. All of these have revealed nothing! I've seen two neurologists and both can't find anything abnormal, which is wonderful but it doesn't help explain my condition. The differential diagnoses that I've been given include: benign cramp fasciculation syndrome, toxicity exposure (possibly ciguatera), or anxiety. The benign cramp fasciculation dx could very well be what I'm experiencing, but it doesn't explain the swallowing issue or the mild ptosis that I'm experiencing. One of my neuros said it's not MS because I wouldn't have diffuse fasciculations. Another neuro said it's most likely not ALS because I had three clean EMGs and I'm not showing progressive weakness.

Any advice? Does what I've describe sound remotely like MG? Are there other tests I should request from my neurologist?

Thanks in advance for your help!

[Annie59]

Have you seen your medical records? The first pulmo I saw devastated me when he seemed to dismiss me. But after getting a copy of the doctors reprt and the test reports including an overnite sleep oxymetry test (I think this is the name). I saw some very big drops in oxygen level in the overnite study and that was on only 3 hours of sleep cause they insisted they HAD to have the unit back at 11am.

AT that time my sleep was so disturbed by wakings and such to get enough sleep I slept till 11am often to get enough! Turned out that pulmo was not very good at all. When he saw my xray was clear he just treated like it was nothing and couldnt be anything as if anything would have to show up there. When I called during winter and was so upset because I couldnt run my heat because it would hurt my lungs so bad all I got was a presciption for this really strong inhaler. It had been months and he didnt even chk me. It turned out that that was the big turn with my Sjorgens that causes my lungs to be so dry I have to humidifiers or I do have severe reaction to forced air heat. My current pulmo gets this. He had to research it but he didnt dismiss me.

I also read that he noted a restrictive breathing process tho he didnt tell me this. This is an example of the 'little' things you can see if you read your records yourself. This pulmo thing was back in 05. Now I am diagnosed with the same but am alot worse.

Have you had an overnite oxymetry test? A full round of pulmo lab tests?

Annie59

[mangi]

Hi Annie,

Thanks for your reply but I'm not sure why you'd recommend such a test. How does this relate to anything I've described? I'd appreciate any explanation you may have.

Best,
Mangi

[AnnieB3]

Mangi, Your comment of "Extreme tightness in chest" explains your question to Annie59 very succinctly. MG is all about fatigable skeletal muscle weakness, that gets worse the more you do and better with rest. MG can affect any of the 640 skeletal muscles at any time. MG affects the chest wall muscles quite often, that's why seeing a pulmonologist will help to determine if your breathing is affected by whatever is going on. MIP (maximum inspiratory pressure) and MEP (maximum expiratory pressure) are specific to neuromuscular diseases and to see if that is the cause of any breathing issues. Make sense?

An overnight oximetery is often done with people who have MG, a test done by pulmonologists, because when muscles get weak, you can have trouble getting oxygen to your body. Muscles get even weaker when you sleep. MGers can have hypoxemia at night or sleep apnea. A full sleep study is often done but an overnight oximetery can show if you are getting enough oxygen while sleeping or not.

Have you seen a neuro-ophthalmologist? If not, they would be the ones to determine if the ptosis in your left eye is from MG or not.

The first tests often run on someone suspected of MG are the Acetylcholine Binding and Modulating antibody tests plus the MuSK antibody test.

A Single Fiber EMG is more sensitive for diagnosing MG than a regular EMG. There are not many doctors who perform it and do it well.

Your symptoms could be from a fish toxin but it's hard to tell unless the doctors do more specific testing!

The fact that you have weakness that gets better after you rest makes it sound like MG. MG is unique in that sense. There aren't many other disease that cause fatigable muscle weakness. LEMS (Lambert-Eaton Myasthenic Syndrome) and CMS (Congenital Myasthenic Syndromes) do too.

The old food and liquid going up the nose is common for those with MG. I can drink some Lacroix water and have it end up in my eyes. It's so much fun. If those "ENT" muscles don't work well, food and liquid won't go down into the stomach. Peristalsis, the way food gets moved through the GI tract, is also affected by acetylcholine and, therefore, MG.

In MG, antibodies attack the muscle receptors in the neuromuscular junction, damaging them and causing less "openings" for acetylcholine. The acetylcholine (ah-seat-ill-co-lean) which comes from the nerves and needs to go into the muscle receptors to make our muscles strong, now has fewer openings to get that to happen. Because not enough of it gets to the muscles, our muscles are weak to begin with and become even weaker when what little we get is used up.

Does that answer some of your questions? I hope you can find a neuromuscular expert who can help you. An MG expert would be best. Maybe contact your local MDA or look up the MDA offices or MDA Directors in your area: www.mdausa.org

You can get more info at www.myasthenia.org too.

I hope you can figure out what is going on. It's not fun to be undiagnosed.

Annie

[alice md]

just a small point to add-

an overnight oximetry may miss significant respiratory muscle weakness. As respiratory muscle weakness may lead to only a minor drop in the O2 sats, that would be considered within the normal range.

So it is important to check CO2 levels as well. Not all sleep labs are equipped to do so, and not all know how to interpret those results correctly! 99/100 sleep studies are done to assess sleep apnea (which is very common) and only very few for neuromuscular problems.

I can tell you my own experience- an excellent pulmonologist I consulted suggested by e-mail (due to geographical distance), that I should have a sleep study with CO2 measurements. my local pulmonologists sent me for that. the CO2 levels were increased, and I had a rapid breathing rate during the test, but the test was interpreted as normal because there was no accompanying drop in O2 saturation.

A few months later I had a similar test done again but this time by a neuromuscular respiratory physician. she also did a very extensive evaluation of my respiratory status. she showed me the results and told me that a less experienced clinician could have easily missed my significant fatigable respiratory muscle weakness because of the misleadingly normal baseline CO2 levels and near- normal overnite oximetry.

she was also the one that told me that my episodes of respiratory compromise are real and require respiratory support.

[mangi]

Thanks AnnieX2 for your feedback and clarification. I saw a pulmonologist who conducted my lung function test. He concluded that I could be dealing with vocal cord dysfunction because I was experiencing intermittent tightening in my throat with breathing problems. This was before the intermittent swallowing issues developed. My ENT just checked my swallowing function and didn't find anything abnormal. Is it common for people with MG to experience swallowing issues and have an ENT scope the nose and not find anything? I thought it was unusual.

[AnnieB3]

Mangi, Get a copy of your breathing tests. That would be very useful in figuring out if you have a restrictive breathing problem or what is going on. If they didn't do the MIP and MEP, you should still have those done.

MG is like ptosis. If you aren't looking for it, you may not "see" it. So if the ENT wasn't looking specifically for an MG issue, he may not have. Or you may have been okay when you had the appt. MGers aren't always weak, it fluctuates.

And I have to say that "vocal cord dysfunction" doesn't really come with breathing problems!

A primary doctor can run the MG antibody tests too. So if you want to start slow, go there first.

Annie

[Annie59]

Alice, thank you so very much for this. The sleep neuro (first neuro) I saw at the university gave me a BIG grin when I showed him the sleep oxymetry done the year before and told me he sees no credence in them as the unit on the finger dislogdes so easily. I said I taped it on so it wouldnt and am not a tossy sleeper but he still was dissmissive and ended up saying no sleep study. He sent me to a person who did sleep hygenie work with me. She didnt tell me anything I didnt know. I had to keep a log and show her. When my sleep became at least more normal in time of day and such I told her it was from my extreme low vitamin D getting treated. She never bought that. I actually asked the neuro if low vit D could be a sleep factor. He said no. Wrong.

Alice can you answer a question about a sniff test? I had the sniff test also called a fluoroscope to test my diaphragm. This was the pulmo at Mayos big find. When I called him the next year and said I was worse what wasnt the local docs getting he said he should have seen me again up there.The neuro up there didnt sched a follow up with him and actually it was a little thing that meant nothing.

He said I should absolutely get another sniff done to see if the paralysis is worse he found in the one side of my diaphgram. He said he would do it. I couldnt afford to go back. I asked my pulmo back then and it didnt go anywhere. I am not sure if it is a test that isnt done everywhere or what. I love my local pulmo but wish he would do this.

Annie59

Originally Posted by alice md

just a small point to add-

an overnight oximetry may miss significant respiratory muscle weakness. As respiratory muscle weakness may lead to only a minor drop in the O2 sats, that would be considered within the normal range.

So it is important to check CO2 levels as well. Not all sleep labs are equipped to do so, and not all know how to interpret those results correctly! 99/100 sleep studies are done to assess sleep apnea (which is very common) and only very few for neuromuscular problems.

I can tell you my own experience- an excellent pulmonologist I consulted suggested by e-mail (due to geographical distance), that I should have a sleep study with CO2 measurements. my local pulmonologists sent me for that. the CO2 levels were increased, and I had a rapid breathing rate during the test, but the test was interpreted as normal because there was no accompanying drop in O2 saturation.

A few months later I had a similar test done again but this time by a neuromuscular respiratory physician. she also did a very extensive evaluation of my respiratory status. she showed me the results and told me that a less experienced clinician could have easily missed my significant fatigable respiratory muscle weakness because of the misleadingly normal baseline CO2 levels and near- normal overnite oximetry.

she was also the one that told me that my episodes of respiratory compromise are real and require respiratory support.

[alice md]

Originally Posted by Annie59

Alice, thank you so very much for this. The sleep neuro (first neuro) I saw at the university gave me a BIG grin when I showed him the sleep oxymetry done the year before and told me he sees no credence in them as the unit on the finger dislogdes so easily. I said I taped it on so it wouldnt and am not a tossy sleeper but he still was dissmissive and ended up saying no sleep study. He sent me to a person who did sleep hygenie work with me. She didnt tell me anything I didnt know. I had to keep a log and show her. When my sleep became at least more normal in time of day and such I told her it was from my extreme low vitamin D getting treated. She never bought that. I actually asked the neuro if low vit D could be a sleep factor. He said no. Wrong.

Alice can you answer a question about a sniff test? I had the sniff test also called a fluoroscope to test my diaphragm. This was the pulmo at Mayos big find. When I called him the next year and said I was worse what wasnt the local docs getting he said he should have seen me again up there.The neuro up there didnt sched a follow up with him and actually it was a little thing that meant nothing.

He said I should absolutely get another sniff done to see if the paralysis is worse he found in the one side of my diaphgram. He said he would do it. I couldnt afford to go back. I asked my pulmo back then and it didnt go anywhere. I am not sure if it is a test that isnt done everywhere or what. I love my local pulmo but wish he would do this.

Annie59

Annie,

there are many different ways to test the function of the diaphragm. some are relatively invasive (where they put a nasogastic tube with a balloon to directly measure the force generated by the diaphragm), and some are just blowing into something.
Any one of those tests if done correctly will give you a relatively accurate answer.

telling you that overnite oximetry is unreliable is like telling you that the results of a blood test are unreliable. every test has its limitations, but we still use them to guide us.

A good physician knows the strengths and limitations of the tests he uses and knows how to correlate them with the entire picture. a test in itself is useless, but can give you a lot of information if you know how to put it in the context of your patient's illness.

It sounds to me that you have to find the way to go back to that pulmonologist in Mayo. your local pulmonologist sounds like an excellent physician but he doesn't have the tools to treat you. you need someone that does.

[Annie59]

Thank you Alice. That may be exactly what needs to happen. Annie59

Originally Posted by alice md

Annie,

there are many different ways to test the function of the diaphragm. some are relatively invasive (where they put a nasogastic tube with a balloon to directly measure the force generated by the diaphragm), and some are just blowing into something.
Any one of those tests if done correctly will give you a relatively accurate answer.

telling you that overnite oximetry is unreliable is like telling you that the results of a blood test are unreliable. every test has its limitations, but we still use them to guide us.

A good physician knows the strengths and limitations of the tests he uses and knows how to correlate them with the entire picture. a test in itself is useless, but can give you a lot of information if you know how to put it in the context of your patient's illness.

It sounds to me that you have to find the way to go back to that pulmonologist in Mayo. your local pulmonologist sounds like an excellent physician but he doesn't have the tools to treat you. you need someone that does.